{
  "id": 18059,
  "label": "Senior-Loken syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017842",
  "properties": {
    "xrefs": [
      "DOID:0050576",
      "GARD:0000322",
      "MEDGEN:96045",
      "MESH:C537580",
      "NANDO:1201049",
      "NCIT:C168588",
      "OMIMPS:266900",
      "Orphanet:3156",
      "UMLS:C0403553",
      "icd11.foundation:1975732692"
    ],
    "synonyms": [
      "SLSN",
      "nephronophthisis with retinal dystrophy",
      "renal dysplasia-retinal aplasia syndrome",
      "Senior Loken syndrome",
      "renal dysplasia retinal aplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 7000,
      "label": "ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060340",
          "EFO:0003900",
          "GARD:0021544",
          "GTR:AN0966173",
          "MEDGEN:908923",
          "Orphanet:363250",
          "UMLS:C4277690"
        ],
        "synonyms": [
          "ciliopathy",
          "ciliopathies"
        ],
        "definition": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005308"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    }
  ],
  "children": [
    {
      "id": 11163,
      "label": "Senior-Loken syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024701",
          "ICD9:759.89",
          "MEDGEN:1639722",
          "OMIM:266900",
          "SCTID:236531005",
          "UMLS:C4551559"
        ],
        "synonyms": [
          "NPHP1 Senior-Loken syndrome",
          "Senior-Loken syndrome 1",
          "Senior-Loken syndrome caused by mutation in NPHP1",
          "Senior-Loken syndrome type 1",
          "senior-loken syndrome-1",
          "Loken-Senior syndrome",
          "SENIOR-Loken syndrome 1",
          "SLSN1",
          "Senior-Loken syndrome",
          "juvenile nephronophthisis with Leber amaurosis",
          "renal dysplasia and retinal aplasia",
          "renal-retinal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009962"
    },
    {
      "id": 12841,
      "label": "senior-loken syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015405",
          "MEDGEN:335569",
          "MESH:C564637",
          "OMIM:606995",
          "UMLS:C1846980"
        ],
        "synonyms": [
          "SLSN3",
          "SENIOR-Loken syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011755"
    },
    {
      "id": 12842,
      "label": "Senior-Loken syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015406",
          "MEDGEN:337697",
          "MESH:C537581",
          "OMIM:606996",
          "UMLS:C1846979"
        ],
        "synonyms": [
          "NPHP4 Senior-Loken syndrome",
          "Senior-Loken syndrome 4",
          "Senior-Loken syndrome caused by mutation in NPHP4",
          "Senior-Loken syndrome type 4",
          "SENIOR-Loken syndrome 4",
          "SLSN4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011756"
    },
    {
      "id": 13286,
      "label": "Senior-Loken syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015451",
          "MEDGEN:332226",
          "MESH:C563763",
          "OMIM:609254",
          "UMLS:C1836517"
        ],
        "synonyms": [
          "IQCB1 Senior-Loken syndrome",
          "Senior-Loken syndrome 5",
          "Senior-Loken syndrome caused by mutation in IQCB1",
          "Senior-Loken syndrome type 5",
          "SENIOR-Loken syndrome 5",
          "SLSN5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012225"
    },
    {
      "id": 13483,
      "label": "Senior-Loken syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059,
        24178
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015476",
          "MEDGEN:387907",
          "MESH:C565708",
          "OMIM:610189",
          "UMLS:C1857779"
        ],
        "synonyms": [
          "CEP290 Senior-Loken syndrome",
          "Senior-Loken syndrome 6",
          "Senior-Loken syndrome caused by mutation in CEP290",
          "Senior-Loken syndrome type 6",
          "SENIOR-Loken syndrome 6",
          "SLSN6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012433"
    },
    {
      "id": 14361,
      "label": "Senior-Loken syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059,
        24752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015681",
          "MEDGEN:462227",
          "OMIM:613615",
          "UMLS:C3150877"
        ],
        "synonyms": [
          "SDCCAG8 Senior-Loken syndrome",
          "Senior-Loken syndrome 7",
          "Senior-Loken syndrome caused by mutation in SDCCAG8",
          "Senior-Loken syndrome type 7",
          "SENIOR-Loken syndrome 7",
          "SLSN7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013326"
    },
    {
      "id": 14929,
      "label": "nephronophthisis 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059,
        18920,
        24718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111123",
          "GARD:0015852",
          "MEDGEN:762112",
          "OMIM:614845",
          "UMLS:C3541853"
        ],
        "synonyms": [
          "CEP164 nephronophthisis (disease)",
          "NPHP15",
          "nephronophthisis (disease) caused by mutation in CEP164",
          "nephronophthisis 15",
          "nephronophthisis type 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013917"
    },
    {
      "id": 15577,
      "label": "Senior-Loken syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016081",
          "MEDGEN:905171",
          "OMIM:616307",
          "UMLS:C4225376"
        ],
        "synonyms": [
          "Senior-Loken syndrome 8",
          "Senior-Loken syndrome caused by mutation in WDR19",
          "Senior-Loken syndrome type 8",
          "WDR19 Senior-Loken syndrome",
          "SENIOR-Loken syndrome 8",
          "SLSN8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014579"
    },
    {
      "id": 15705,
      "label": "Senior-Loken syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016145",
          "MEDGEN:899086",
          "OMIM:616629",
          "UMLS:C4225263"
        ],
        "synonyms": [
          "SLSN9",
          "Senior-Loken syndrome 9",
          "Senior-Loken syndrome 9; SLSN9",
          "Senior-Loken syndrome caused by mutation in TRAF3IP1",
          "Senior-Loken syndrome type 9",
          "TRAF3IP1 Senior-Loken syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014712"
    }
  ],
  "roots": [
    {
      "id": 7000,
      "label": "ciliopathy"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}